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rs121918115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918115(C;T)
Make rs121918115(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28902228
GeneATP2A1
is asnp
is mentioned by
dbSNPrs121918115
ebirs121918115
HLIrs121918115
Exacrs121918115
Varsomers121918115
Maprs121918115
PheGenIrs121918115
hapmaprs121918115
1000 genomesrs121918115
hgdprs121918115
ensemblrs121918115
gopubmedrs121918115
geneviewrs121918115
scholarrs121918115
googlers121918115
pharmgkbrs121918115
gwascentralrs121918115
openSNPrs121918115
23andMers121918115
23andMe allrs121918115
SNP Nexus

SNPshotrs121918115
SNPdbers121918115
MSV3drs121918115
GWAS Ctlgrs121918115
Max Magnitude0
OMIM108730
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918115(T;T)
Alt rs121918115(T;T)
Reference rs121918115(C;C)
Significance Pathogenic
Disease Brody myopathy
Variation info
Gene NPIPB8 ATP2A1
CLNDBN Brody myopathy
Reversed 0
HGVS NC_000016.9:g.28913549C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019384.24,